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Autism Often Misdiagnosed In Kids With Genetic Condition


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Many children with a genetic disorder are being mistakenly diagnosed with autism as well, researchers say, and the mix-up could have big consequences.

The social impairments common to those with 22q11.2 deletion syndrome, or 22q, can resemble symptoms of autism, leading many children with the condition to be classified on the spectrum. However, findings from a study published Wednesday in the Journal of Autism and Developmental Disorders suggest the two conditions may be unrelated.

For the study, researchers at the University of California, Davis MIND Institute looked at 29 children with 22q, which was previously known as DiGeorge syndrome. Each child was assessed using the Autism Diagnostic Observation Schedule and their parents were given the Social Communication Questionnaire, both considered standard for assessing autism.

Results from the testing indicated that none of the children with 22q were on the spectrum.

The finding is significant, researchers say, because previously as many as 50 percent of those with 22q were thought to have autism.

“The results of our study show that of the children involved in our study no child actually met strict diagnostic criteria for an autism spectrum disorder,” said Kathleen Angkustsiri, an assistant professor of developmental-behavioral pediatrics at the MIND Institute who led the study. “Our findings lead us to question whether this is the correct label for these children who clearly have social impairments.”

Despite the high rate of autism among those with 22q, researchers said that parents of kids with the syndrome often indicated that their children did not seem quite like others on the spectrum. And determining whether individuals with 22q have autism as well could have serious implications. That’s because treatments designed for those with autism may exacerbate anxiety that’s common among individuals with 22q, researchers said.

In addition to social awkwardness and significant anxiety, those with 22q often experience developmental delay and low IQ, among other symptoms. The condition occurs in about 1 in 2,000 people.

Researchers said the findings highlight the need for more accurate ways to evaluate children with 22q for autism as well as appropriate treatments for those with the syndrome.

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Comments (12 Responses)

  1. M says:

    This is another example of why it is so important to find out exactly what autism is and what causes it. I work with many families of students with disabilities. I have always believed that many of the students labeled autistic have a variety of different brain based disabilities. The label often prompts removal from the general curriculum and placement in programs designed to help students with autism that may not provide what the student needs.

  2. Gale Prol says:

    Quite a few genetic conditions may be included in that. Tuberous Sclerosis, Dravet Syndrome to name a few. To go unacknowledged for years using stabs in the dark with inappropriate medications or complacency should not be the norm. Even with the difficulties presented, we need to work on getting better routes of genetic testing and better training for developmental pediatricians or make team collaboration with other specialists the practice method of choice so they become more expert on the presentation of so many of these syndromes.

  3. VMGillen says:

    “Autism”, or ASD, or whatever the APA’s flavor-du-jour may be, is a list of symptoms. There is NO etiology. Therefore, this is totally bogus – but then again, so is the entire ASD construct delivered by the APA-DSM.

  4. Erin Miller says:

    I’m still unclear as to the practical implications of misdiagnosis. How does misdiagnosis of autism affect obtaining and delivering appropriate services? Are autism and genetic conditions fundamentally different in their source or simply different in expression?In my individual anecdotal observation, sometimes interventions that help autistic people are also helpful with other conditions.

  5. Eyreefaerie says:

    Begging your pardon VM,while it is true autism is diagnosed via symptoms, it is *untrue* that autism is “bogus”. While there are interactions of genetics,environment and social customs that are not fully understood,it is dangerous to say call autism bogus or non-existent. Those words mislead readers here for the first time into thinking that autism is new having just popped up in the last ten years–and did not exist before their child was diagnosed. The fact is that the autism has existed as a unique diagnosis since 1943,there are adults with autism both visibly disabled and less so, and the study the brain itself is much more difficult to be subjective about than most physical systems.

  6. Eyreefaerie says:

    EDIT:the brain is most difficult to measure *objectively* than physical systems.

  7. Jennifer says:

    Erin, you raise a good question. As the parent of a child with a genetic syndrome, who also has some sensory issues, while some interventions used for children with autism may be applicable, not all may, and may exacerbate or be the wrong approach. For example, children with my child’s syndrome have a documented rise of melatonin during the day which leads to being overtired. So that needs to be addressed in a different way perhaps. Also medications will not necessarily work in the same way.

  8. Thomas says:

    This article is not about people with autism, it is about people with 22q. It just says that those with 22q were considered to be on the autism spectrum, but the research shows they are not a good fit for being included on the spectrum. It also states that when the treatment which are typically successful for those on the autism spectrum are applied to those with 22q the results are at times negative. This is all good news. Now those with 22q can receive an independent classification leading to better research on both populations and better treatment outcomes for those with 22q.

  9. Dave Gaines says:

    Eyreefaerie, you missed VMGillen’s point. You should beg your own pardon.

    VMGillen brings up an important, intelligent, and, unfortunately, often overlooked point.

  10. Sarah says:

    Shouldn”t genetics tests be step one before labeling a child? Why aren’t the cases that are not specifically genetic being looked at with an environmental exposure as the trigger? I surmise with 1 in 88 American children now diagnosed with autism that a very large percentage of those cases are due to environmental triggers (toxins) with a smaller percentage being soley genetic. I think it important to tease out genetic disorders vs. envirnmentally caused and make a destinction between the two.

    The inverse to above issue is that autism in many children is blamed on their faulty genes when it could be due to environmental toxins.

  11. Dot Thompson says:

    As a former special ed teacher and parent of a daughter with mental retardation due to an aneurysm, it is my observation that many of our special ed children previously diagnosed as mentally retarded, language impaired, and emotionally disturbed are now classified as “autistic.” It is a more “popular” term among disabilities, and “aspergers” is even more popular because in general, the child is higher functioning. Mentally retarded, which has a pejorative, derogatory sound, has been changed to “intellectually disabled” which is a nebulous, non-defined term indicating ?, but sounds better.

  12. Jennilm says:

    22q11 Deletion Syndrome (aka Velo Cardio Facial Syndrome or VCFS) is a genetic syndrome that can be extremely difficult to diagnose. Some are diagnosed in the pre- & post-natal periods due to serious medical issues including some life threatening congenital heart defects. Later children may be diagnosed because of significant feeding/swallowing issues, developmental delays and immune deficiencies. Others still are diagnosed when there are speech delays or nonverbal, learning issues or cognitive disabilities. Many have mixes of issues and may include behavioral health issues. It’s a complex syndrome!!! And widely undiagnosed! Why does it matter? The cause of the medical issues, development and/or behaviors have the same base cause – a tiny deletion of a region of one of the pair of 22nd chromosomes which contains somewhere between 30-40 genes…so deleted on one of the chromosomes. They have that much in common, but the treatments and therapies can be very different! Research going back 15-20 years shows effective (now-standard) surgical treatments, therapeutic approaches and risk factors for additional conditions. In this study they looked at just 29 children! There are thousands and more that may have been diagnosed with autism but better served with this diagnosis. On the other hand, many states & local educational authorities are educating themselves on ASDs and so may become more familiar with the other related genetic conditions that can be well-served by inclusion in the methods and treatments. The more we learn about the causes through peer-reviewed research, the better. It helped inform me in raising my daughter with 22q11 to adulthood and well, I can say that proper diagnosis, medical specialties, early intervention, special education, related services and transition planning can help!

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